Experts issue guidelines for gene tests in kids

Groups representing pediatricians and geneticists issued new recommendations on Thursday to provide doctors with guidance about when to test a child's DNA for genetic conditions.

The recommendations are the first collaboration between the American Academy of Pediatrics and the American College of Medical Genetics and Genomics. Neither organization has issued guidelines for genetic testing of kids in over a decade, according to one of the study's lead authors.

"What we're trying to show is a unified and consistent message about genetic testing in children," said Dr. Lainie Friedman Ross, the Carolyn and Matthew Bucksbaum Professor of Clinical Ethics at the University of Chicago.

"The first thing is what hasn't changed and the most important thing is (that) what is best for the child should be front and center for everything in pediatrics," Ross said.

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That includes offering every parent the opportunity to screen their newborn children for treatable genetic conditions - such as sickle-cell disease, which can lead to chronic health problems as well as fatal sickle-cell "crises."

Newborn screening "shouldn't just be offered. It should be strongly encouraged, because the benefits far outweigh the risks," Ross said.

Testing children for diseases that don't affect people until adulthood, however, should be discouraged unless a childhood treatment may decrease the risk of complications or death, according to the experts.

For example, the new policy would recommend against girls being screened for the BRCA1 and BRCA2 gene mutations, which put adult women at a higher risk for breast and ovarian cancer. About one in 600 women in the U.S. carry the mutations, and those women may decide to have their breasts and ovaries removed later in life.

There is no reason to test babies or children for those types of mutations because the results would not change how doctors treat the child, according to Ross.

"That's something you get pretty universal agreement on from the geneticist side, to not test children for adult onset conditions," said Dr. David Sweetser, chief of medical genetics at Mass General Hospital for Children in Boston.

"Giving that kind of information makes us all uneasy - especially if it's something you can't do anything about it, or if it's a test that's not 100 percent accurate," added Sweetser, who was not involved with the new recommendations.

But the experts agreed that an exception can be made if it will relieve the emotional burden of not knowing whether or not the child has a condition. "Our feeling is, we should educate them and counsel them against it, but if they tell us its overwhelming.... We should respect that," Ross said.

The guideline authors urge that adopted children should be treated just like biological children in situations where testing is being considered. And they discourage the use of at-home genetic tests kits.

The recommendations also address the need for experts to help patients and doctors understand the results of genetic testing and screening.

Sweetser said that's an important point, because test results are often more complicated than a simple answer. "It's not uncommon to get a patient transferred to us... to explain what the results are because the physician wasn't aware they could get such an ambiguous result," he said.

The experts also said that children being tested as possible tissue donors should have access to an advocate "or similar mechanism" to protect the child's interests

Ross said the current statement does not address genetic testing or screening for research purposes, or analyzing a child's entire genome.

"I thought it was a well thought out policy statement. It does have some clear recommendations that I agree with. It's not overly restrictive, and it does allow a bit of latitude," said Sweetser.

Ross added that these are just recommendations, and they are not requirements.

"These are guidelines, neither organization is telling people how to practice medicine, but they're important (recommendations) because they combine the knowledge of pediatricians, geneticists and ethicists," she said.

The recommendations were published simultaneously in the journals Pediatrics and Genetics in Medicine.